Table 1. Summary of pathogenic variant types by gene in the ICR639 CPG NGS validation series.

	Pathogenic Variant Type
Gene	Base substitutions	Deletions	Insertions	Complex indels	Exon CNVs	Total
APC	2	1	1	0	0	4
ATM	3	1	1	0	1	6
BRCA1	85	102	24	3	30	244
BRCA2	86	120	30	11	11	258
BRIP1	4	4	3	0	0	11
CDH1	1	0	0	0	0	1
CDKN2A	2	1	0	0	0	3
CHEK2	0	2	0	0	4	6
DICER1	1	0	2	1	0	4
EPCAM	0	0	0	0	1	1
FH	2	0	0	0	1	3
GPC3	1	0	0	0	0	1
HRAS	1	0	0	0	0	1
MEN1	1	0	1	0	0	2
MLH1	4	1	2	0	1	8
MSH2	4	1	1	0	8	14
MSH6	6	2	3	0	2	13
MUTYH	1	0	0	0	0	1
NF1	1	2	0	0	1	4
PALB2	6	9	3	0	1	19
PMS2	2	1	0	0	4	7
PTEN	2	2	1	0	1	6
RAD51C	3	0	0	0	1	4
RAD51D	2	1	1	0	0	4
RB1	0	0	0	0	1	1
RET	3	0	0	0	0	3
SDHB	1	0	0	0	2	3
SDHD	1	0	0	0	0	1
SMARCB1	2	0	0	0	0	2
TP53	2	0	0	1	3	6
WT1	3	0	0	0	1	4